Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia

Laura Petrarca,Valentina Guida,R. Nenna,Alessandro De Luca,Marina Goldoni,L. Bernardini,Maria Giulia Conti,Giuseppe Cimino,E. Mancino,Laura Masuelli,P. Poli,Fabio Midulla

Published 2025 in Pediatric Pulmonology

ABSTRACT

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by abnormalities in the motile cilia. Diagnosis could be hard to make, but genetic analysis could be important for the diagnosis and for defining prognosis.

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